ClinVar Miner

List of variants in gene RSPH4A reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) rs141226759 0.00039
NM_001010892.3(RSPH4A):c.1001C>A (p.Thr334Lys) rs149463940 0.00033
NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala) rs371062144 0.00018
NM_001010892.3(RSPH4A):c.242C>T (p.Ser81Leu) rs371869815 0.00016
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00015
NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys) rs140079844 0.00014
NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu) rs139677155 0.00009
NM_001010892.3(RSPH4A):c.2021A>G (p.Glu674Gly) rs368369580 0.00009
NM_001010892.3(RSPH4A):c.1274G>A (p.Gly425Asp) rs371882096 0.00008
NM_001010892.3(RSPH4A):c.1970A>G (p.Tyr657Cys) rs1230428971 0.00007
NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val) rs61738662 0.00006
NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr) rs141807210 0.00006
NM_001010892.3(RSPH4A):c.268C>A (p.Pro90Thr) rs530756069 0.00006
NM_001010892.3(RSPH4A):c.397G>A (p.Asp133Asn) rs976414886 0.00006
NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser) rs762313827 0.00005
NM_001010892.3(RSPH4A):c.902A>C (p.Gln301Pro) rs755128358 0.00005
NM_001010892.3(RSPH4A):c.1006C>T (p.Arg336Cys) rs746613781 0.00004
NM_001010892.3(RSPH4A):c.1333C>T (p.Pro445Ser) rs146636625 0.00004
NM_001010892.3(RSPH4A):c.1814C>A (p.Pro605His) rs775186734 0.00004
NM_001010892.3(RSPH4A):c.25C>A (p.Gln9Lys) rs139499008 0.00004
NM_001010892.3(RSPH4A):c.35A>T (p.Glu12Val) rs377656819 0.00004
NM_001010892.3(RSPH4A):c.596G>T (p.Gly199Val) rs143264253 0.00004
NM_001010892.3(RSPH4A):c.1061G>A (p.Arg354His) rs367712020 0.00002
NM_001010892.3(RSPH4A):c.1121G>A (p.Arg374His) rs141217974 0.00002
NM_001010892.3(RSPH4A):c.1361T>C (p.Ile454Thr) rs752047678 0.00002
NM_001010892.3(RSPH4A):c.1436A>G (p.Asn479Ser) rs766529254 0.00002
NM_001010892.3(RSPH4A):c.1547C>T (p.Ala516Val) rs771315690 0.00002
NM_001010892.3(RSPH4A):c.1877C>G (p.Ser626Cys) rs920198802 0.00002
NM_001010892.3(RSPH4A):c.1928A>T (p.Asn643Ile) rs779796065 0.00002
NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His) rs769766758 0.00002
NM_001010892.3(RSPH4A):c.1976C>A (p.Pro659His) rs372634959 0.00002
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly) rs765412618 0.00002
NM_001010892.3(RSPH4A):c.259C>T (p.Pro87Ser) rs767490154 0.00002
NM_001010892.3(RSPH4A):c.560A>T (p.Asn187Ile) rs758078631 0.00002
NM_001010892.3(RSPH4A):c.1089A>C (p.Glu363Asp) rs758997589 0.00001
NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met) rs1379993014 0.00001
NM_001010892.3(RSPH4A):c.1120C>T (p.Arg374Cys) rs768193419 0.00001
NM_001010892.3(RSPH4A):c.1204G>A (p.Glu402Lys) rs945197853 0.00001
NM_001010892.3(RSPH4A):c.1241C>T (p.Pro414Leu) rs1394282681 0.00001
NM_001010892.3(RSPH4A):c.1379A>G (p.Lys460Arg) rs1436491672 0.00001
NM_001010892.3(RSPH4A):c.1394G>A (p.Arg465Gln) rs777456038 0.00001
NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu) rs753449428 0.00001
NM_001010892.3(RSPH4A):c.1531G>A (p.Glu511Lys) rs1221446542 0.00001
NM_001010892.3(RSPH4A):c.1666C>T (p.Arg556Cys) rs777653223 0.00001
NM_001010892.3(RSPH4A):c.1806G>T (p.Gln602His) rs1775775547 0.00001
NM_001010892.3(RSPH4A):c.1861A>G (p.Ile621Val) rs748272434 0.00001
NM_001010892.3(RSPH4A):c.1912G>A (p.Gly638Ser) rs370338820 0.00001
NM_001010892.3(RSPH4A):c.1917-3T>C rs757886950 0.00001
NM_001010892.3(RSPH4A):c.1934A>G (p.Tyr645Cys) rs746646378 0.00001
NM_001010892.3(RSPH4A):c.2017C>A (p.Pro673Thr) rs920942886 0.00001
NM_001010892.3(RSPH4A):c.206C>T (p.Thr69Met) rs1398453218 0.00001
NM_001010892.3(RSPH4A):c.488G>A (p.Arg163Gln) rs1215954352 0.00001
NM_001010892.3(RSPH4A):c.563G>A (p.Ser188Asn) rs376372993 0.00001
NM_001010892.3(RSPH4A):c.730C>T (p.Arg244Cys) rs778774449 0.00001
NM_001010892.3(RSPH4A):c.803T>C (p.Phe268Ser) rs774797157 0.00001
NM_001010892.3(RSPH4A):c.916G>A (p.Glu306Lys) rs781463706 0.00001
NM_001010892.3(RSPH4A):c.965T>C (p.Phe322Ser) rs1428425636 0.00001
NM_001010892.3(RSPH4A):c.1165G>A (p.Glu389Lys)
NM_001010892.3(RSPH4A):c.1193C>T (p.Ala398Val)
NM_001010892.3(RSPH4A):c.1237G>A (p.Ala413Thr)
NM_001010892.3(RSPH4A):c.1268G>A (p.Arg423Lys) rs2115361973
NM_001010892.3(RSPH4A):c.1370A>G (p.Lys457Arg)
NM_001010892.3(RSPH4A):c.1487A>C (p.His496Pro)
NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser) rs565491418
NM_001010892.3(RSPH4A):c.1564A>G (p.Ser522Gly) rs977234347
NM_001010892.3(RSPH4A):c.1628A>G (p.Asn543Ser)
NM_001010892.3(RSPH4A):c.1641T>G (p.His547Gln) rs201238941
NM_001010892.3(RSPH4A):c.1704AGA[2] (p.Glu573del) rs757198203
NM_001010892.3(RSPH4A):c.1705G>A (p.Glu569Lys)
NM_001010892.3(RSPH4A):c.1716AGA[1] (p.Glu573del) rs370030988
NM_001010892.3(RSPH4A):c.1814C>G (p.Pro605Arg)
NM_001010892.3(RSPH4A):c.1817C>G (p.Pro606Arg) rs138413282
NM_001010892.3(RSPH4A):c.1858G>C (p.Ala620Pro) rs1775776988
NM_001010892.3(RSPH4A):c.1867G>A (p.Val623Ile) rs1562392873
NM_001010892.3(RSPH4A):c.1917-2A>C
NM_001010892.3(RSPH4A):c.2011A>G (p.Ser671Gly)
NM_001010892.3(RSPH4A):c.203A>G (p.Lys68Arg) rs748597085
NM_001010892.3(RSPH4A):c.2055G>C (p.Glu685Asp) rs2115368533
NM_001010892.3(RSPH4A):c.2071G>A (p.Ala691Thr) rs2115368553
NM_001010892.3(RSPH4A):c.2095G>A (p.Ala699Thr) rs372304999
NM_001010892.3(RSPH4A):c.2127A>C (p.Glu709Asp) rs1215996303
NM_001010892.3(RSPH4A):c.224C>T (p.Ala75Val)
NM_001010892.3(RSPH4A):c.266A>G (p.Glu89Gly)
NM_001010892.3(RSPH4A):c.281C>T (p.Pro94Leu) rs1397332406
NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu) rs1775514576
NM_001010892.3(RSPH4A):c.335_337delinsTAC (p.Arg112_Thr113delinsIlePro) rs2115351269
NM_001010892.3(RSPH4A):c.389A>G (p.Gln130Arg)
NM_001010892.3(RSPH4A):c.413C>A (p.Thr138Asn)
NM_001010892.3(RSPH4A):c.461A>G (p.Gln154Arg) rs1775520006
NM_001010892.3(RSPH4A):c.46G>C (p.Glu16Gln)
NM_001010892.3(RSPH4A):c.511G>C (p.Ala171Pro)
NM_001010892.3(RSPH4A):c.512C>T (p.Ala171Val)
NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr) rs1436446801
NM_001010892.3(RSPH4A):c.613A>G (p.Ser205Gly)
NM_001010892.3(RSPH4A):c.646G>T (p.Ala216Ser) rs1390787423
NM_001010892.3(RSPH4A):c.667A>G (p.Ser223Gly) rs1775525747
NM_001010892.3(RSPH4A):c.716A>G (p.Lys239Arg)
NM_001010892.3(RSPH4A):c.764T>C (p.Ile255Thr)
NM_001010892.3(RSPH4A):c.782T>C (p.Met261Thr)
NM_001010892.3(RSPH4A):c.814C>G (p.Gln272Glu)
NM_001010892.3(RSPH4A):c.833T>G (p.Leu278Arg) rs1406041200
NM_001010892.3(RSPH4A):c.922-11T>G
NM_001010892.3(RSPH4A):c.931G>A (p.Ala311Thr) rs1330301417
NM_001010892.3(RSPH4A):c.943G>A (p.Val315Ile)
NM_001010892.3(RSPH4A):c.961T>A (p.Tyr321Asn)

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