ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 2D by Natera, Inc.

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) rs2302566 0.07763
NM_016955.4(SEPSECS):c.1211+7A>G rs17408685 0.04557
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) rs115959591 0.00697
NM_016955.4(SEPSECS):c.935-5T>G rs2302564 0.00644
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=) rs148209667 0.00165
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly) rs150309842 0.00099
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=) rs368182922 0.00026
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) rs77226826 0.00014
NM_016955.4(SEPSECS):c.548-1G>A rs200041461 0.00014
NM_016955.4(SEPSECS):c.84T>C (p.His28=) rs532571185 0.00014
NM_016955.4(SEPSECS):c.1027-7G>A rs374407543 0.00011
NM_016955.4(SEPSECS):c.388+10G>A rs376797370 0.00011
NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly) rs572892329 0.00009
NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp) rs139718374 0.00009
NM_016955.4(SEPSECS):c.960A>G (p.Leu320=) rs141199115 0.00009
NM_016955.4(SEPSECS):c.1027-9T>C rs368335778 0.00008
NM_016955.4(SEPSECS):c.1212-10C>G rs375688949 0.00008
NM_016955.4(SEPSECS):c.*6G>A rs753956739 0.00007
NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=) rs375534729 0.00007
NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val) rs764436131 0.00004
NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys) rs762180254 0.00003
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) rs747732980 0.00002
NM_016955.4(SEPSECS):c.389-1G>A rs754373273 0.00002
NM_016955.4(SEPSECS):c.264T>A (p.His88Gln) rs756402081 0.00001
NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp) rs1004182733 0.00001
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) rs779387647 0.00001
NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys) rs1064796736
NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr) rs1261267969
NM_016955.4(SEPSECS):c.115-18dup rs34423002
NM_016955.4(SEPSECS):c.115-4del rs34423002
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe) rs752082832
NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr) rs1233729947
NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn) rs1728243877
NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys) rs768840152
NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg) rs1194507895
NM_016955.4(SEPSECS):c.804+4A>T rs1479554001

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