ClinVar Miner

List of variants studied for Pseudohypoparathyroidism type 1B

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ClinVar version:
Total variants: 126
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HGVS dbSNP
GNAS, 3-BP DEL, CAT, EXON 13
GNAS, 4.7-KB DEL
GNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPE
GNASAS, 4.7-KB DEL
GRCh37/hg19 20q13.32(chr20:57244540-57246216)
NM_001001433.3(STX16):c.*1049G>A rs559176715
NM_001001433.3(STX16):c.*114C>T rs191638951
NM_001001433.3(STX16):c.*1156G>C
NM_001001433.3(STX16):c.*1160G>A rs886056855
NM_001001433.3(STX16):c.*1186C>T
NM_001001433.3(STX16):c.*1195A>G
NM_001001433.3(STX16):c.*1203T>C rs886056856
NM_001001433.3(STX16):c.*1223A>G
NM_001001433.3(STX16):c.*1232A>G rs886056857
NM_001001433.3(STX16):c.*1312A>T
NM_001001433.3(STX16):c.*1378A>T rs750137163
NM_001001433.3(STX16):c.*1488A>C rs565168524
NM_001001433.3(STX16):c.*1547C>G rs532426531
NM_001001433.3(STX16):c.*1565C>G
NM_001001433.3(STX16):c.*1581G>C rs73302110
NM_001001433.3(STX16):c.*1652G>A rs186800651
NM_001001433.3(STX16):c.*1676T>A
NM_001001433.3(STX16):c.*173C>G rs765639298
NM_001001433.3(STX16):c.*1746C>T rs886056858
NM_001001433.3(STX16):c.*1747G>C
NM_001001433.3(STX16):c.*1764C>T rs886056859
NM_001001433.3(STX16):c.*1785A>G rs6128397
NM_001001433.3(STX16):c.*1790A>T rs145827696
NM_001001433.3(STX16):c.*1797C>G rs148109645
NM_001001433.3(STX16):c.*17G>A
NM_001001433.3(STX16):c.*183G>T rs1052642
NM_001001433.3(STX16):c.*1863C>A rs141875151
NM_001001433.3(STX16):c.*1886T>C
NM_001001433.3(STX16):c.*1896G>A
NM_001001433.3(STX16):c.*1898A>G rs886056860
NM_001001433.3(STX16):c.*1899C>T rs138678203
NM_001001433.3(STX16):c.*1928C>T rs11578
NM_001001433.3(STX16):c.*1957T>C
NM_001001433.3(STX16):c.*1997A>G
NM_001001433.3(STX16):c.*2016G>T rs779563360
NM_001001433.3(STX16):c.*2057G>A rs7683
NM_001001433.3(STX16):c.*2060T>C rs115404291
NM_001001433.3(STX16):c.*2080G>A rs111631847
NM_001001433.3(STX16):c.*2095C>T
NM_001001433.3(STX16):c.*2137C>T rs886056861
NM_001001433.3(STX16):c.*2138G>A
NM_001001433.3(STX16):c.*2152G>A
NM_001001433.3(STX16):c.*217G>A
NM_001001433.3(STX16):c.*2183G>A rs147429412
NM_001001433.3(STX16):c.*2199C>T rs139818778
NM_001001433.3(STX16):c.*2276G>C
NM_001001433.3(STX16):c.*2293G>A rs185815575
NM_001001433.3(STX16):c.*2312G>A rs886056862
NM_001001433.3(STX16):c.*2365A>T rs189786439
NM_001001433.3(STX16):c.*2377G>T
NM_001001433.3(STX16):c.*2475T>C rs886056864
NM_001001433.3(STX16):c.*2499C>T rs886056866
NM_001001433.3(STX16):c.*2543G>C rs75424783
NM_001001433.3(STX16):c.*2555C>G
NM_001001433.3(STX16):c.*2558T>C
NM_001001433.3(STX16):c.*2568C>T
NM_001001433.3(STX16):c.*2574T>C
NM_001001433.3(STX16):c.*2594T>C rs886056867
NM_001001433.3(STX16):c.*2627G>C rs76626612
NM_001001433.3(STX16):c.*270T>C rs886056850
NM_001001433.3(STX16):c.*2885C>T rs188362833
NM_001001433.3(STX16):c.*2896A>G rs886056868
NM_001001433.3(STX16):c.*2962C>T rs192204838
NM_001001433.3(STX16):c.*3053C>T
NM_001001433.3(STX16):c.*3092A>C
NM_001001433.3(STX16):c.*3093A>G rs886056869
NM_001001433.3(STX16):c.*3110G>T
NM_001001433.3(STX16):c.*3194C>T
NM_001001433.3(STX16):c.*436G>C rs886056851
NM_001001433.3(STX16):c.*441C>G rs886056852
NM_001001433.3(STX16):c.*539G>A
NM_001001433.3(STX16):c.*558T>C
NM_001001433.3(STX16):c.*56T>C rs886056849
NM_001001433.3(STX16):c.*648A>C
NM_001001433.3(STX16):c.*70G>A rs114597931
NM_001001433.3(STX16):c.*952C>A rs886056854
NM_001001433.3(STX16):c.-160G>A rs368572667
NM_001001433.3(STX16):c.-25A>C
NM_001001433.3(STX16):c.-350C>A rs41296205
NM_001001433.3(STX16):c.-355C>T rs141733765
NM_001001433.3(STX16):c.-377G>A rs886056845
NM_001001433.3(STX16):c.-409G>A rs886056844
NM_001001433.3(STX16):c.-421C>G
NM_001001433.3(STX16):c.-464G>A rs41296203
NM_001001433.3(STX16):c.-465T>G rs886056843
NM_001001433.3(STX16):c.-494G>A
NM_001001433.3(STX16):c.-534C>G rs190719996
NM_001001433.3(STX16):c.-550G>A rs148071494
NM_001001433.3(STX16):c.-621G>A
NM_001001433.3(STX16):c.-63T>C rs181473720
NM_001001433.3(STX16):c.-673C>G rs886056842
NM_001001433.3(STX16):c.-693G>A rs149351460
NM_001001433.3(STX16):c.-707G>A rs886056841
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) rs142560013
NM_001001433.3(STX16):c.132+15G>A rs139859128
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392
NM_001001433.3(STX16):c.217C>T (p.Arg73Trp) rs115046538
NM_001001433.3(STX16):c.315G>A (p.Lys105=)
NM_001001433.3(STX16):c.394-7C>T rs533111939
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln) rs41276950
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys)
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp) rs138647604
NM_001001433.3(STX16):c.484G>T (p.Val162Leu)
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524
NM_001001433.3(STX16):c.557-7G>C rs41276952
NM_001001433.3(STX16):c.569G>A (p.Arg190Gln) rs114786310
NM_001001433.3(STX16):c.585G>A (p.Gln195=) rs147137636
NM_001001433.3(STX16):c.593T>C (p.Phe198Ser)
NM_001001433.3(STX16):c.594C>T (p.Phe198=)
NM_001001433.3(STX16):c.644A>T (p.His215Leu) rs185111037
NM_001001433.3(STX16):c.706C>T (p.Arg236Trp)
NM_001001433.3(STX16):c.716A>G (p.Glu239Gly) rs202102691
NM_001001433.3(STX16):c.781A>C (p.Ile261Leu)
NM_001001433.3(STX16):c.875C>T (p.Ala292Val)
NM_001001433.3(STX16):c.904A>G (p.Met302Val) rs886056846
NM_001001433.3(STX16):c.907C>G (p.Leu303Val) rs886056847
NM_001001433.3(STX16):c.912G>C (p.Val304=) rs886056848
NM_001077488.4(GNAS):c.1033_1035dup (p.Glu345dup) rs1569031518
NM_001077488.4(GNAS):c.139+1G>C
NR_037941.1(STX16):n.11T>C rs6026428
STX16, 3-KB TO 4.4-KB MICRODELETION

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