ClinVar Miner

List of variants reported as pathogenic for hereditary photodermatosis by Revvity Omics, Revvity

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00025
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00005
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00003
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101 0.00002
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.397dup (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000140.5(FECH):c.286C>T (p.Arg96Ter) rs984041251
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337

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